Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique
tr. 53-59
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2017
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oai:112.137.131.14:VNU_123-606052017-12-14T03:17:32Z Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique Nghiên cứu hoàn thiện quy trình chẩn đoán di truyền trước chuyển phôi bệnh teo cơ tủy bằng kỹ thuật minisequening Nguyen, Thi Thanh Nga Tran, Van Khoa Nguyen, Thi Hong Van Ngo, Truong Giang protocol improvement spinal muscular atrophy preimplantation genetic minisequencing technique tr. 53-59 Spinal muscular atrophy (SMA) is a severe neurodegenerative autosomal recessive disorder. Most of patients are caused by the homozygous absence of exon 7 of the telomeric copy of the SMN gene (SMNt) on chromosome. Children with SMA often died prematurely at school age. Therefore, the aim of the study was to improve protocol for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique. The study was conducted on 30 embryonic cell templates byopsied plus embryos, and four couples were treated using this method. Five unaffected embryos were transferred which resulted in two clinical pregnancy. We have successfully applied the technique of minisequencing for the Preimplantation Genetic Diagnosis of spinal muscular atrophy. 2017-12-12T04:03:38Z 2017-12-12T04:03:38Z 2017 Article 2588-1140 http://repository.vnu.edu.vn/handle/VNU_123/60605 other Tập 33;Số 2S application/pdf ĐHQGHN |
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VNU Digital Repository |
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protocol improvement spinal muscular atrophy preimplantation genetic minisequencing technique |
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protocol improvement spinal muscular atrophy preimplantation genetic minisequencing technique Nguyen, Thi Thanh Nga Tran, Van Khoa Nguyen, Thi Hong Van Ngo, Truong Giang Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| description |
tr. 53-59 |
| format |
Article |
| author |
Nguyen, Thi Thanh Nga Tran, Van Khoa Nguyen, Thi Hong Van Ngo, Truong Giang |
| author_facet |
Nguyen, Thi Thanh Nga Tran, Van Khoa Nguyen, Thi Hong Van Ngo, Truong Giang |
| author_sort |
Nguyen, Thi Thanh Nga |
| title |
Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| title_short |
Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| title_full |
Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| title_fullStr |
Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| title_full_unstemmed |
Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| title_sort |
study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique |
| publisher |
ĐHQGHN |
| publishDate |
2017 |
| url |
http://repository.vnu.edu.vn/handle/VNU_123/60605 |
| _version_ |
1680966578588352512 |